Devoted to research

Navigating through metabolic disorders at the subcellular level, our research aims to understand organelles at the core of the pathogenesis, develop novel biomarkers and uncover potential drug targets.

  1. Research Projects

Research projects

CENTOGENE embraces the vision of patient engagement in healthcare decisions, as we move further into the era of personalized medicine.

Together with renowned international scientists and academic institutions, e.g. Universities of Rostock, Lübeck, Greifswald, we conduct several epidemiological studies with global partners.

These joint projects involve hundreds of patients affected with disorders such as Fabry, Pompe, Krabbe, various forms of mucopolysacharoidoses and others. International collaborations yield a rich collection of genetic and biochemical data which are used to map out phenotype-genotype correlations and improve the accuracy of diagnostics and prognostics.

New methods, like mass-spectrometry give a good chance to characterize specific metabolic alterations in the blood (plasma) of affected patients that allow diagnosing in the future the disease earlier, with a higher sensitivity and specificity.

Therefore it is the goal of the study to identify and validate a new biochemical marker from the plasma of the affected patients helping to benefit other patients by an early diagnose and thereby with an earlier treatment.



  • BioTyrosin - Biomarker for Tyrosinemia type 1 disease

    Hereditary Tyrosinemia type 1 (HT-1) is a rare genetic disorder in which the newborn child lacks the ability to break down the amino acid tyrosine. As a result of this deficiency, toxic substances build up in the blood and can cause liver failure, kidney dysfunction and neurological problems. The…

  • BioMannosido - Biomarker for Alpha-mannosidosis disease

    Alpha-mannosidosis is a rare lysosomal storage disorder of the Glycoprotein family of diseases and is closely related to Mucopolysaccharidoses. The goal of this study is to identify and validate a new biochemical marker from the plasma of affected patients helping to benefit other patients by an…

  • BioHoFH - Biomarker for homozygous familial hypercholesterolemia

    Homozygous familial hypercholesterolemia (HoFH) is a rare hereditary disorder of lipoprotein metabolism characterized by exceptionally high levels of low-density lipoprotein cholesterol (LDL-C). The goal of this study is to identify and validate a new biochemical marker from the plasma of affected…

  • BioHFS - Biomarker for hyaline fibromatosis syndrome

    Hyaline fibromatosis syndrome (HFS) is rare autosomal recessive disease characterized by the deposition of amorphous hyaline material in skin and visceral organs. The goal of this study is to identify and validate a new biochemical marker from the plasma of affected patients helping to benefit other…

  • BioHAE - Biomarker for hereditary angioedema disease type 1

    Hereditary angioedema is a rare inherited disorder characterized by recurrent episodes of the accumulation of fluids outside of the blood vessels, blocking the normal flow of blood or lymphatic fluid and causing rapid swelling of tissues in the hands, feet, limbs, face, intestinal tract, or airway.…

  • BioDuchenne - Biomarker for Duchenne disease

    Duchenne muscular dystrophy (DMD) is a rare muscle disorder but it is one of the most frequent genetic conditions affecting approximately 1 in 3,500 male births worldwide. The goal of this study is to identify and validate a new biochemical marker from the plasma of affected patients helping to…

  • BioCDS - Biomarker for creatine deficiency syndromes

    The creatine deficiency syndromes (CDS) are a group of inborn errors of metabolism which interrupt the biosynthesis or transportation of creatine. Individuals with creatine deficiency syndromes classically present with intellectual disabilities and seizure disorders and may present with…

  • BioWolman - Biomarker for Wolman disease

    Wolman disease is a rare genetic disorder characterized by the complete absence of an enzyme known as lysosomal acid lipase (LIPA or LAL). This enzyme is required to breakdown (metabolize) lipids in the body. Without the LIPA enzyme, lipids may abnormally accumulate in the tissues and organs of the…

  • BioML - Biomarker for Mucolipidosis disorder type I, II, II or IV

    Mucolipidoses (ML) are a group of inherited metabolic diseases in which both glycosaminoglycans (GAGs) and another group of substances called sphingolipids build up in the body. The goal of this study is to develop new biochemical markers from the plasma of affected patients, helping to benefit the…

  • BioSly - Biomarker for Sly disease

    Mucopolysaccharidosis type VII (also known as Sly syndrome) is an inherited disease caused by a lack of the enzyme beta-glucuronidase. The goal of the study is to validate this new biochemical marker for Sly disease from the plasma of the affected patients, helping to benefit other patients by an…